Since 1980, Arnold Munnich has made every efforts to conciliate the clinical and molecular approaches of genetic diseases in children. His efforts have resulted in the founding of the Department of Genetics, Hôpital des Enfants-Malades, Paris, which brings together

i) a Clinical Research INSERM unit, dedicated to the mapping and identification of genes causing developmental and neurogenetic diseases in children,

ii) the Medical Genetic Clinic of Assistance Publique, Hôpitaux de Paris. Thanks to the improvement of the human gene map, he has mapped and/or identified twenty disease causing genes, including the genes for achondroplasia (1/15,000 live births, fibroblast growth factor receptor 3), Hirschsprung disease (1/5,000 live births, Ret oncogene), spinal muscular atrophy (1/6,000 live births, survival motor neuron, SMN), X-linked spastic paraplegia (proteolipid protein), Holt-Oram syndrome (brachyury), multiple exostosis (EXT), Stargardt macular dystrophy (ABCR4), Leber congenital amaurosis (retinal guanylate cyclase), Saethre-Chotzen craniosynostosis (twist), Pearson’s marrow pancreas syndrome (mitochondrial DNA deletion), the first nuclear gene for Leigh syndrome (SDH, FP), mental retardation (AR) : neurotrypsine, several nuclear genes for mitochondrial diseases (BCS1, COX10, SCO1, RRM2B), Triple A syndrome (1/50,000 live births, Aladin), Incontinentia pigmenti (1/5,000 live births, Nemo, with the International IP Consortium) and ectodermal dysplasia-immune deficiency (1/5,000 live births)

A. Munnich has fostered several research groups and young investigators that gradually took over the leadership and senior ship of their projects. What are the benefits for the children and their families? The mapping and identification of these genes makes carrier testing, genetic counseling and prenatal diagnosis of these conditions now feasible and allow novel therapeutic approaches. The originality of his project consists in the combination of a clinical expertise and a molecular approach of medical genetics in the unique environment of a large European pediatric hospital.
A. Munnich is coordinator of the Center of Reference of Mitochondrial Diseases in France. One of his major concerns is to gather together researchers, MD and patients. He is particularly dedicated to his patients, to their families and to patients associations he supports actively.